Progeria differential diagnosis: Difference between revisions
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* Congenital generalized lipodystrophy<ref name="pmid28476236">{{cite journal| author=Lightbourne M, Brown RJ| title=Genetics of Lipodystrophy. | journal=Endocrinol Metab Clin North Am | year= 2017 | volume= 46 | issue= 2 | pages= 539-554 | pmid=28476236 | doi=10.1016/j.ecl.2017.01.012 | pmc=5424609 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28476236 }}</ref> | * Congenital generalized lipodystrophy<ref name="pmid28476236">{{cite journal| author=Lightbourne M, Brown RJ| title=Genetics of Lipodystrophy. | journal=Endocrinol Metab Clin North Am | year= 2017 | volume= 46 | issue= 2 | pages= 539-554 | pmid=28476236 | doi=10.1016/j.ecl.2017.01.012 | pmc=5424609 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28476236 }}</ref> | ||
* Cockayne syndrome | * Cockayne syndrome | ||
*Mandibuloacral dysplasia | *Mandibuloacral dysplasia<ref name="pmid29208544">{{cite journal| author=Cenni V, D'Apice MR, Garagnani P, Columbaro M, Novelli G, Franceschi C et al.| title=Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing. | journal=Ageing Res Rev | year= 2018 | volume= 42 | issue= | pages= 1-13 | pmid=29208544 | doi=10.1016/j.arr.2017.12.001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29208544 }}</ref> | ||
*Petty-Laxova-Wiedemann progeroid syndrome | *Petty-Laxova-Wiedemann progeroid syndrome | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Hutchinson-Gilford progeria syndrome (HGPS) must be differentiated from other diseases such as Atypical progeria syndromes, Restrictive dermopathy, Familial partial lipodystrophy (FPLD), Wiedemann-Rautenstrauch syndrome, Congenital generalized lipodystrophy, Cockayne syndrome, Mandibuloacral dysplasia and Petty-Laxova-Wiedemann progeroid syndrome
Differentiating [Disease name] from other Diseases
Hutchinson-Gilford progeria syndrome (HGPS) must be differentiated from the following:[1]
- Atypical progeria syndromes
- Restrictive dermopathy[2]
- Familial partial lipodystrophy (FPLD)
- Wiedemann-Rautenstrauch syndrome[3]
- Congenital generalized lipodystrophy[4]
- Cockayne syndrome
- Mandibuloacral dysplasia[5]
- Petty-Laxova-Wiedemann progeroid syndrome
OR
As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4].
Differentiating [disease name] from other diseases on the basis of [symptom 1], [symptom 2], and [symptom 3]
On the basis [symptom 1], [symptom 2], and [symptom 3], [disease name] must be differentiated from [disease 1], [disease 2], [disease 3], [disease 4], [disease 5], and [disease 6].
| Diseases | Clinical manifestations | Para-clinical findings | Gold standard | Additional findings | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Symptoms | Physical examination | ||||||||||||||
| Lab Findings | Imaging | Histopathology | |||||||||||||
| Symptom 1 | Symptom 2 | Symptom 3 | Physical exam 1 | Physical exam 2 | Physical exam 3 | Lab 1 | Lab 2 | Lab 3 | Imaging 1 | Imaging 2 | Imaging 3 | ||||
| Differential Diagnosis 1 | |||||||||||||||
| Differential Diagnosis 2 | |||||||||||||||
| Differential Diagnosis 3 | |||||||||||||||
| Diseases | Symptom 1 | Symptom 2 | Symptom 3 | Physical exam 1 | Physical exam 2 | Physical exam 3 | Lab 1 | Lab 2 | Lab 3 | Imaging 1 | Imaging 2 | Imaging 3 | Histopathology | Gold standard | Additional findings |
| Differential Diagnosis 4 | |||||||||||||||
| Differential Diagnosis 5 | |||||||||||||||
| Differential Diagnosis 6 | |||||||||||||||
References
- ↑ Navarro CL, Esteves-Vieira V, Courrier S, Boyer A, Duong Nguyen T, Huong le TT; et al. (2014). "New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update". Eur J Hum Genet. 22 (8): 1002–11. doi:10.1038/ejhg.2013.258. PMC 4350588. PMID 24169522.
- ↑ Smitt JH, van Asperen CJ, Niessen CM, Beemer FA, van Essen AJ, Hulsmans RF; et al. (1998). "Restrictive dermopathy. Report of 12 cases. Dutch Task Force on Genodermatology". Arch Dermatol. 134 (5): 577–9. doi:10.1001/archderm.134.5.577. PMID 9606327.
- ↑ Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B; et al. (2017). "Wiedemann-Rautenstrauch syndrome: A phenotype analysis". Am J Med Genet A. 173 (7): 1763–1772. doi:10.1002/ajmg.a.38246. PMID 28447407.
- ↑ Lightbourne M, Brown RJ (2017). "Genetics of Lipodystrophy". Endocrinol Metab Clin North Am. 46 (2): 539–554. doi:10.1016/j.ecl.2017.01.012. PMC 5424609. PMID 28476236.
- ↑ Cenni V, D'Apice MR, Garagnani P, Columbaro M, Novelli G, Franceschi C; et al. (2018). "Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing". Ageing Res Rev. 42: 1–13. doi:10.1016/j.arr.2017.12.001. PMID 29208544.